P38H (p.Pro38His) variant of PLCG2 (P16885)
P38H (p.Pro38His) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P38H (p.Pro38His) variant details
- p.Pro38His
- gnomAD 16-81786102-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- CADD 22.90
- PolyPhen-2 0.12
- SIFT 0.00
- 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