T42N (p.Thr42Asn) variant of PLCG2 (P16885)
T42N (p.Thr42Asn) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T42N (p.Thr42Asn) variant details
- p.Thr42Asn
- gnomAD 16-81786114-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.385
- Literature evidence available