M61R (p.Met61Arg) variant of PIK3CD (O00329)
M61R (p.Met61Arg) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
M61R (p.Met61Arg) variant details
- p.Met61Arg
- gnomAD 1-9715581-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.43
- MetaLR 0.20
- MetaSVM -0.65
- CADD 23.80
- PolyPhen-2 0.22
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available