G71A (p.Gly71Ala) variant of SH2D1A (SH2 domain-containing protein 1A)
G71A (p.Gly71Ala) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
G71A (p.Gly71Ala) variant details
- p.Gly71Ala
- gnomAD rs1434069108
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.78
- MetaLR 0.86
- MetaSVM 0.94
- CADD 25.80
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available