D40N (p.Asp40Asn) variant of MYO7A (Unconventional myosin-VIIa)
D40N (p.Asp40Asn) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
D40N (p.Asp40Asn) variant details
- p.Asp40Asn
- gnomAD 11-77142808-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.48
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available