M47T (p.Met47Thr) variant of PLCG2 (P16885)
M47T (p.Met47Thr) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M47T (p.Met47Thr) variant details
- p.Met47Thr
- ExAC rs777730567
- gnomAD rs777730567
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.0869