M47L (p.Met47Leu) variant of PLCG2 (P16885)
M47L (p.Met47Leu) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M47L (p.Met47Leu) variant details
- p.Met47Leu
- ExAC rs758215832
- gnomAD rs758215832
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- CADD 20.70
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.0869