A44V (p.Ala44Val) variant of PTCH1 (Protein patched homolog 1)
A44V (p.Ala44Val) 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 0.36 / 1. The record also includes population frequency data and structural context.
A44V (p.Ala44Val) variant details
- p.Ala44Val
- gnomAD rs1219886976
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.18
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available