G25A (p.Gly25Ala) variant of PTCH1 (Protein patched homolog 1)
G25A (p.Gly25Ala) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
G25A (p.Gly25Ala) variant details
- p.Gly25Ala
- rs774712511
- ClinGen CA5139057
- ClinVar RCV000564085
- ClinVar RCV000821615
- Uncertain significance
- Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.21
- CADD 11.40
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Uncertain significance (Gorlin syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00024)
- 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)