L10F (p.Leu10Phe) variant of PLCG2 (P16885)
L10F (p.Leu10Phe) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L10F (p.Leu10Phe) variant details
- p.Leu10Phe
- gnomAD 16-81786017-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- CADD 24.10
- PolyPhen-2 0.74
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.106
- Literature evidence available