S65P (p.Ser65Pro) variant of SH2D1A (SH2 domain-containing protein 1A)
S65P (p.Ser65Pro) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S65P (p.Ser65Pro) variant details
- p.Ser65Pro
- rs775759946
- gnomAD X-124370247-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- AlphaMissense 0.23
- MetaLR 0.81
- MetaSVM 0.41
- CADD 9.47
- PolyPhen-2 0.22
- SIFT 0.04
- Most common in the 1KG:ACB population (allele frequency 0.0072)
- Structural context available
- Literature evidence available