A43P (p.Ala43Pro) variant of PTCH1 (Protein patched homolog 1)
A43P (p.Ala43Pro) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A43P (p.Ala43Pro) variant details
- p.Ala43Pro
- ExAC rs766536174
- TOPMed rs766536174
- gnomAD rs766536174
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.23
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.27
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available