A23D (p.Ala23Asp) variant of PTCH1 (Protein patched homolog 1)
A23D (p.Ala23Asp) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Basal cell carcinoma, susceptibility to, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A23D (p.Ala23Asp) variant details
- p.Ala23Asp
- rs761204245
- ClinGen CA5139061
- ClinVar RCV001196937
- ExAC rs761204245
- Uncertain significance
- Basal cell carcinoma, susceptibility to, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.18
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.62
- ClinVar: Uncertain significance (Basal cell carcinoma, susceptibility to, 1)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available