L1837H (p.Leu1837His) variant of MYO7A (Unconventional myosin-VIIa)
L1837H (p.Leu1837His) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Usher syndrome; not provided; Usher syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
L1837H (p.Leu1837His) variant details
- p.Leu1837His
- rs1385324903
- ClinGen CA381952897
- ClinVar RCV001956140
- ClinVar RCV003324573
- Pathogenic
- Usher syndrome; not provided; Usher syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.98
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Usher syndrome; not provided; Usher syndrome type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Usher Syndrome Type I. (PMID 20301442)
- Cited in: Clinical utility gene card for: Usher syndrome. (PMID 21697857)