T4A (p.Thr4Ala) variant of PLCG2 (P16885)
T4A (p.Thr4Ala) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T4A (p.Thr4Ala) variant details
- p.Thr4Ala
- ExAC rs780153793
- gnomAD rs780153793
- Missense
- Variant Prioritization Score for Impact Estimate 0.0913
- CADD 2.75
- PolyPhen-2 0.00
- SIFT 0.73
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score 0.0189