R66K (p.Arg66Lys) variant of PIK3R1 (P27986)
R66K (p.Arg66Lys) in PIK3R1 (P27986) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R66K (p.Arg66Lys) variant details
- p.Arg66Lys
- rs761122171
- ClinGen CA3289941
- cosmic curated COSV99075
- ClinVar RCV000506810
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.12
- CADD 19.40
- PolyPhen-2 0.07
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available