T165M (p.Thr165Met) variant of MYO7A (Unconventional myosin-VIIa)
T165M (p.Thr165Met) 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 Rare genetic deafness; Retinal dystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
T165M (p.Thr165Met) variant details
- p.Thr165Met
- rs111033174
- ClinGen CA278676
- NCI-TCGA Cosmic COSV6868
- cosmic curated COSV68683
- Pathogenic/Likely pathogenic
- Rare genetic deafness; Retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.95
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Rare genetic deafness; Retinal dystrophy; not provided)
- EBI: Pathogenic (in USH1B)
- UniProt: Pathogenic (in USH1B)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. (PMID 15660226)
- Cited in: Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and… (PMID 16679490)