R13G (p.Arg13Gly) variant of PTCH1 (Protein patched homolog 1)
R13G (p.Arg13Gly) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R13G (p.Arg13Gly) variant details
- p.Arg13Gly
- rs779791579
- ClinGen CA334329
- ClinVar RCV000168136
- ClinVar RCV000388546
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.26
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.37
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- 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)