G16S (p.Gly16Ser) variant of SH2D1A (SH2 domain-containing protein 1A)
G16S (p.Gly16Ser) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
G16S (p.Gly16Ser) variant details
- p.Gly16Ser
- cosmic curated COSV63579
- Ensembl rs2147519416
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.67
- MetaLR 0.90
- MetaSVM 0.96
- CADD 23.20
- PolyPhen-2 0.92
- SIFT 0.16
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available