G5A (p.Gly5Ala) variant of PTCH1 (Protein patched homolog 1)
G5A (p.Gly5Ala) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G5A (p.Gly5Ala) variant details
- p.Gly5Ala
- rs864622762
- ClinGen CA347992
- ClinVar RCV000203690
- ClinVar RCV002390556
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.34
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.5e-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)