R38H (p.Arg38His) variant of PIK3CD (O00329)
R38H (p.Arg38His) in PIK3CD (O00329) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 14. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R38H (p.Arg38His) variant details
- p.Arg38His
- rs761349863
- NCI-TCGA Cosmic COSV6313
- cosmic curated COSV63130
- ExAC rs761349863
- Uncertain significance
- Immunodeficiency 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.51
- CADD 24.20
- PolyPhen-2 0.97
- SIFT 0.18
- ClinVar: Uncertain significance (Immunodeficiency 14)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available