R32K (p.Arg32Lys) variant of PTCH1 (Protein patched homolog 1)
R32K (p.Arg32Lys) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R32K (p.Arg32Lys) variant details
- p.Arg32Lys
- rs746923835
- ClinGen CA374121436
- ClinVar RCV001979960
- ExAC rs746923835
- Uncertain significance
- Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.19
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.97
- ClinVar: Uncertain significance (Gorlin syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.6e-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)