A15V (p.Ala15Val) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
A15V (p.Ala15Val) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of CYP51A1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A15V (p.Ala15Val) variant details
- p.Ala15Val
- rs138006785
- ClinGen CA4338700
- ClinVar RCV003969822
- ClinVar RCV005933499
- Likely benign
- CYP51A1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.06
- MetaLR 0.11
- MetaSVM -0.99
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.97
- ClinVar: Likely benign (CYP51A1-related disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)