M1V (p.Met1Val) variant of MYO7A (Unconventional myosin-VIIa)
M1V (p.Met1Val) 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; Rare genetic deafness; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs797044518
- ClinGen CA278743
- ClinVar RCV000156361
- ClinVar RCV002463651
- Pathogenic/Likely pathogenic
- Usher syndrome; Rare genetic deafness; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- MetaLR 0.51
- MetaSVM -0.08
- PolyPhen-2 0.10
- SIFT 0.01
- MutPred 0.93
- ClinVar: Pathogenic/Likely pathogenic (Usher syndrome; Rare genetic deafness; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Usher Syndrome Type I. (PMID 20301442)
- Cited in: Clinical utility gene card for: Usher syndrome. (PMID 21697857)