L10V (p.Leu10Val) variant of PLCG2 (P16885)
L10V (p.Leu10Val) 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, and structural context.
L10V (p.Leu10Val) variant details
- p.Leu10Val
- ExAC rs766002121
- gnomAD rs766002121
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- CADD 22.50
- PolyPhen-2 0.29
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.106