L1837P (p.Leu1837Pro) variant of MYO7A (Unconventional myosin-VIIa)
L1837P (p.Leu1837Pro) 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 Usher syndrome; Usher syndrome type 1; Autosomal recessive nonsyndromic hearing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
L1837P (p.Leu1837Pro) variant details
- p.Leu1837Pro
- rs1385324903
- ClinGen CA381952898
- ClinVar RCV000669072
- ClinVar RCV001334338
- Pathogenic/Likely pathogenic
- Usher syndrome; Usher syndrome type 1; Autosomal recessive nonsyndromic hearing
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.98
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Usher syndrome; Usher syndrome type 1; Autosomal recessive nonsy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)