T57A (p.Thr57Ala) variant of PLCG2 (P16885)
T57A (p.Thr57Ala) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
T57A (p.Thr57Ala) variant details
- p.Thr57Ala
- gnomAD 16-81786158-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- CADD 24.70
- PolyPhen-2 0.83
- SIFT 0.22
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available