G16S (p.Gly16Ser) variant of PTCH1 (Protein patched homolog 1)
G16S (p.Gly16Ser) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G16S (p.Gly16Ser) variant details
- p.Gly16Ser
- rs1057515721
- ClinGen CA10634607
- ClinVar RCV000269791
- ClinVar RCV000327144
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.16
- CADD 12.20
- PolyPhen-2 0.00
- SIFT 0.85
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 5.9e-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)