A4V (p.Ala4Val) variant of PTCH1 (Protein patched homolog 1)
A4V (p.Ala4Val) 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 not specified; Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- rs540045689
- ClinGen CA374121752
- ClinVar RCV000796321
- ClinVar RCV006274030
- Uncertain significance
- not specified; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.31
- CADD 23.50
- PolyPhen-2 0.29
- SIFT 0.03
- ClinVar: Uncertain significance (not specified; Gorlin syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.3e-06)
- 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)