Y12C (p.Tyr12Cys) variant of PIK3R1 (P27986)
Y12C (p.Tyr12Cys) in PIK3R1 (P27986) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Agammaglobulinemia 7, autosomal recessive; SHORT syndrome; Immunodeficiency 36 w. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
Y12C (p.Tyr12Cys) variant details
- p.Tyr12Cys
- TOPMed rs963171218
- gnomAD rs963171218
- Uncertain significance
- Agammaglobulinemia 7, autosomal recessive; SHORT syndrome; Immunodeficiency 36 w
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.57
- CADD 28.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Agammaglobulinemia 7, autosomal recessive; SHORT syndrome; Immun)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available