R87Q (p.Arg87Gln) variant of PIK3CD (O00329)
R87Q (p.Arg87Gln) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
R87Q (p.Arg87Gln) variant details
- p.Arg87Gln
- cosmic curated COSV10650
- Ensembl rs1557659523
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.59
- CADD 26.00
- PolyPhen-2 0.92
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available