S65N (p.Ser65Asn) variant of SH2D1A (SH2 domain-containing protein 1A)
S65N (p.Ser65Asn) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
S65N (p.Ser65Asn) variant details
- p.Ser65Asn
- gnomAD X-124365817-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.42
- MetaLR 0.90
- MetaSVM 1.01
- CADD 20.70
- PolyPhen-2 0.06
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available