S65F (p.Ser65Phe) variant of SH2D1A (SH2 domain-containing protein 1A)
S65F (p.Ser65Phe) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S65F (p.Ser65Phe) variant details
- p.Ser65Phe
- rs1012239614
- gnomAD X-124370266-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- CADD 9.60
- SIFT 1.00
- Most common in the Middle Eastern population (allele frequency 0.00049)
- Structural context available
- Literature evidence available