V39A (p.Val39Ala) variant of MYO7A (Unconventional myosin-VIIa)
V39A (p.Val39Ala) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
V39A (p.Val39Ala) variant details
- p.Val39Ala
- gnomAD 11-77142806-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.14
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.80
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available