L1858P (p.Leu1858Pro) variant of MYO7A (Unconventional myosin-VIIa)
L1858P (p.Leu1858Pro) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of MYO7A-related disorder; Rare genetic deafness; Usher syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
L1858P (p.Leu1858Pro) variant details
- p.Leu1858Pro
- rs368657015
- ClinGen CA278684
- ClinVar RCV000036193
- ClinVar RCV000668342
- Pathogenic/Likely pathogenic
- MYO7A-related disorder; Rare genetic deafness; Usher syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.89
- CADD 31.00
- PolyPhen-2 0.53
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (MYO7A-related disorder; Rare genetic deafness; Usher syndrome)
- EBI: Pathogenic (in USH1B)
- UniProt: Pathogenic (in USH1B)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. (PMID 10930322)
- Cited in: Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and… (PMID 16679490)