N44S (p.Asn44Ser) variant of MYO7A (Unconventional myosin-VIIa)
N44S (p.Asn44Ser) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
N44S (p.Asn44Ser) variant details
- p.Asn44Ser
- Ensembl rs1951309867
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.10
- CADD 24.70
- PolyPhen-2 0.06
- SIFT 0.01
- Population evidence available
- Structural context available