R88H (p.Arg88His) variant of PIK3CD (O00329)
R88H (p.Arg88His) in PIK3CD (O00329) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
R88H (p.Arg88His) variant details
- p.Arg88His
- rs769029561
- NCI-TCGA Cosmic COSV6313
- cosmic curated COSV63132
- ExAC rs769029561
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.82
- CADD 28.60
- PolyPhen-2 0.95
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available