A22S (p.Ala22Ser) variant of SH2D1A (SH2 domain-containing protein 1A)
A22S (p.Ala22Ser) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in XLP1. The record also includes variant effect predictions and structural context.
A22S (p.Ala22Ser) variant details
- p.Ala22Ser
- NCI-TCGA Cosmic COSV6357
- cosmic curated COSV63578
- Uncertain significance
- in XLP1
- Missense
- MetaLR 0.43
- MetaSVM -0.38
- SIFT 0.38
- EBI: uncertain significance (in XLP1)
- UniProt: Uncertain significance (in XLP1)
- Structural context available