T49R (p.Thr49Arg) variant of PLCG2 (P16885)
T49R (p.Thr49Arg) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
T49R (p.Thr49Arg) variant details
- p.Thr49Arg
- gnomAD 16-81786135-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available