P1887L (p.Pro1887Leu) variant of MYO7A (Unconventional myosin-VIIa)
P1887L (p.Pro1887Leu) 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 Rare genetic deafness; not provided; Usher syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
P1887L (p.Pro1887Leu) variant details
- p.Pro1887Leu
- rs199606180
- ClinGen CA278690
- cosmic curated COSV68684
- ClinVar RCV000036200
- Pathogenic/Likely pathogenic
- Rare genetic deafness; not provided; Usher syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.92
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Rare genetic deafness; not provided; Usher syndrome type 1)
- EBI: Pathogenic (in USH1B)
- UniProt: Pathogenic (in USH1B)
- Most common in the African/African-American population (allele frequency 4.8e-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: Genetic Hearing Loss Overview. (PMID 20301607)