V10A (p.Val10Ala) variant of MYO7A (Unconventional myosin-VIIa)
V10A (p.Val10Ala) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
V10A (p.Val10Ala) variant details
- p.Val10Ala
- rs878853237
- ClinGen CA16616837
- ClinVar RCV000675065
- ClinVar RCV001315655
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.96
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00019)
- Structural context available
- Cited in: Usher Syndrome Type I. (PMID 20301442)
- Cited in: Clinical utility gene card for: Usher syndrome. (PMID 21697857)