P27A (p.Pro27Ala) variant of PTCH1 (Protein patched homolog 1)
P27A (p.Pro27Ala) 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 Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P27A (p.Pro27Ala) variant details
- p.Pro27Ala
- rs1245076183
- ClinGen CA374121465
- ClinVar RCV001315156
- gnomAD rs1245076183
- Uncertain significance
- Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.17
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (Gorlin syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Nevoid Basal Cell Carcinoma Syndrome. (PMID 20301330)