Q17H (p.Gln17His) variant of PLCG2 (P16885)
Q17H (p.Gln17His) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q17H (p.Gln17His) variant details
- p.Gln17His
- cosmic curated COSV10084
- Ensembl rs750388097
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- CADD 24.00
- PolyPhen-2 0.59
- SIFT 0.16
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.494