P38L (p.Pro38Leu) variant of PLCG2 (P16885)
P38L (p.Pro38Leu) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P38L (p.Pro38Leu) variant details
- p.Pro38Leu
- gnomAD 16-81786102-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.803
- Literature evidence available