A569V (p.Ala569Val) variant of PTCH1 (Protein patched homolog 1)
A569V (p.Ala569Val) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
A569V (p.Ala569Val) variant details
- p.Ala569Val
- rs766973191
- ClinGen CA5138577
- ClinVar RCV002815542
- ExAC rs766973191
- Uncertain significance
- Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.87
- AlphaMissense 0.92
- MetaLR 0.88
- MetaSVM 0.90
- CADD 26.20
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Gorlin syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-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)