A457V (p.Ala457Val) variant of MYO7A (Unconventional myosin-VIIa)
A457V (p.Ala457Val) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Usher syndrome type 1B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
A457V (p.Ala457Val) variant details
- p.Ala457Val
- rs111033286
- ClinGen CA278624
- ClinVar RCV000036048
- ClinVar RCV002513368
- Likely pathogenic
- not provided; Usher syndrome type 1B
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.80
- CADD 23.40
- PolyPhen-2 0.04
- SIFT 0.02
- ClinVar: Likely pathogenic (not provided; Usher syndrome type 1B)
- EBI: Pathogenic (in USH1B)
- UniProt: Pathogenic (in USH1B)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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: Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity. (PMID 10094549)