S63F (p.Ser63Phe) variant of SH2D1A (SH2 domain-containing protein 1A)
S63F (p.Ser63Phe) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
S63F (p.Ser63Phe) variant details
- p.Ser63Phe
- cosmic curated COSV63579
- gnomAD rs1290371898
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.64
- AlphaMissense 0.11
- MetaLR 0.92
- MetaSVM 0.92
- CADD 23.60
- PolyPhen-2 0.94
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00017)
- Structural context available