A42D (p.Ala42Asp) variant of PTCH1 (Protein patched homolog 1)
A42D (p.Ala42Asp) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. 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.
A42D (p.Ala42Asp) variant details
- p.Ala42Asp
- TOPMed rs1030446889
- gnomAD rs1030446889
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.28
- CADD 0.80
- PolyPhen-2 0.01
- SIFT 0.65
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available