E20K (p.Glu20Lys) variant of AIP (AH receptor-interacting protein)
E20K (p.Glu20Lys) in AIP (AH receptor-interacting protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
E20K (p.Glu20Lys) variant details
- p.Glu20Lys
- rs2495387780
- ClinGen CA381545815
- ClinVar RCV002832949
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.32
- MetaLR 0.68
- MetaSVM 0.32
- CADD 24.20
- PolyPhen-2 0.01
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available