A397T (p.Ala397Thr) variant of MYO7A (Unconventional myosin-VIIa)
A397T (p.Ala397Thr) 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 type 1; not provided; Autosomal dominant nonsyndromic hearing los. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
A397T (p.Ala397Thr) variant details
- p.Ala397Thr
- rs1297886521
- ClinGen CA381934653
- ClinVar RCV000669802
- ClinVar RCV001868236
- Pathogenic/Likely pathogenic
- Usher syndrome type 1; not provided; Autosomal dominant nonsyndromic hearing los
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.87
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Usher syndrome type 1; not provided; Autosomal dominant nonsyndr)
- EBI: Pathogenic (in USH1B)
- UniProt: Pathogenic (in USH1B)
- Most common in the Ashkenazi Jewish population (allele frequency 7.9e-05)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)