S32I (p.Ser32Ile) variant of PLCG2 (P16885)
S32I (p.Ser32Ile) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S32I (p.Ser32Ile) variant details
- p.Ser32Ile
- gnomAD 16-81786084-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- CADD 23.90
- PolyPhen-2 0.50
- SIFT 0.25
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.278
- Literature evidence available