A5S (p.Ala5Ser) variant of SH2D1A (SH2 domain-containing protein 1A)
A5S (p.Ala5Ser) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A5S (p.Ala5Ser) variant details
- p.Ala5Ser
- gnomAD X-124346655-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.23
- MetaLR 0.65
- MetaSVM 0.07
- CADD 0.48
- PolyPhen-2 0.00
- SIFT 0.72
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available