G19V (p.Gly19Val) variant of PTCH1 (Protein patched homolog 1)
G19V (p.Gly19Val) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
G19V (p.Gly19Val) variant details
- p.Gly19Val
- rs587780708
- ClinGen CA332592
- ClinVar RCV000123041
- ClinVar RCV000484179
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.35
- CADD 21.30
- PolyPhen-2 0.15
- SIFT 0.04
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 9.7e-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)