A43V (p.Ala43Val) variant of PTCH1 (Protein patched homolog 1)
A43V (p.Ala43Val) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. 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.
A43V (p.Ala43Val) variant details
- p.Ala43Val
- Ensembl rs2118907913
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.24
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available