I48V (p.Ile48Val) variant of MYO7A (Unconventional myosin-VIIa)
I48V (p.Ile48Val) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
I48V (p.Ile48Val) variant details
- p.Ile48Val
- Ensembl rs1951683564
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.23
- CADD 22.70
- PolyPhen-2 0.23
- SIFT 0.09
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available