A48V (p.Ala48Val) variant of PIK3R1 (P27986)
A48V (p.Ala48Val) in PIK3R1 (P27986) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of PIK3R1-related immunodeficiency and SHORT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A48V (p.Ala48Val) variant details
- p.Ala48Val
- TOPMed rs1361328385
- gnomAD rs1361328385
- Likely benign
- PIK3R1-related immunodeficiency and SHORT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.08
- CADD 23.40
- PolyPhen-2 0.23
- SIFT 0.01
- ClinVar: Likely benign (PIK3R1-related immunodeficiency and SHORT syndrome)
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available