A26T (p.Ala26Thr) variant of MYO7A (Unconventional myosin-VIIa)
A26T (p.Ala26Thr) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
A26T (p.Ala26Thr) variant details
- p.Ala26Thr
- Ensembl rs2135627538
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.78
- CADD 26.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available