L10R (p.Leu10Arg) variant of PLCG2 (P16885)
L10R (p.Leu10Arg) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L10R (p.Leu10Arg) variant details
- p.Leu10Arg
- gnomAD 16-81786018-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- CADD 25.30
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.106
- Literature evidence available