G38A (p.Gly38Ala) variant of PTCH1 (Protein patched homolog 1)
G38A (p.Gly38Ala) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G38A (p.Gly38Ala) variant details
- p.Gly38Ala
- rs143494325
- ClinGen CA350340
- ClinVar RCV000206274
- ClinVar RCV000569099
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.18
- CADD 11.60
- PolyPhen-2 0.00
- SIFT 0.26
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available
- Cited in: Nevoid Basal Cell Carcinoma Syndrome. (PMID 20301330)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)