V43V (p.Val43Val) variant of PLCG2 (P16885)
V43V (p.Val43Val) in PLCG2 (P16885) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V43V (p.Val43Val) variant details
- p.Val43Val
- rs779108574
- gnomAD 16-81786118-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.141
- CADD 8.55
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.228
- Literature evidence available