R35Q (p.Arg35Gln) variant of PTCH1 (Protein patched homolog 1)
R35Q (p.Arg35Gln) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R35Q (p.Arg35Gln) variant details
- p.Arg35Gln
- rs587778627
- ClinGen CA161658
- ClinVar RCV000121883
- ClinVar RCV000467292
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.23
- AlphaMissense 0.25
- MetaLR 0.54
- MetaSVM -0.32
- CADD 21.10
- PolyPhen-2 0.22
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 5.1e-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)