L41P (p.Leu41Pro) variant of AIP (AH receptor-interacting protein)
L41P (p.Leu41Pro) in AIP (AH receptor-interacting protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
L41P (p.Leu41Pro) variant details
- p.Leu41Pro
- ExAC rs780109144
- gnomAD rs780109144
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.78
- MetaLR 0.63
- MetaSVM 0.32
- CADD 24.20
- PolyPhen-2 0.85
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available