M28I (p.Met28Ile) variant of PLCG2 (P16885)
M28I (p.Met28Ile) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M28I (p.Met28Ile) variant details
- p.Met28Ile
- gnomAD 16-81786073-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- CADD 25.00
- PolyPhen-2 0.91
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.793
- Literature evidence available