V45A (p.Val45Ala) variant of PLCG2 (P16885)
V45A (p.Val45Ala) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V45A (p.Val45Ala) variant details
- p.Val45Ala
- gnomAD 16-81786123-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- CADD 29.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.732
- Literature evidence available