I88V (p.Ile88Val) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
I88V (p.Ile88Val) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
I88V (p.Ile88Val) variant details
- p.Ile88Val
- rs138205508
- ClinGen CA4338630
- ClinVar RCV002121569
- 1000Genomes rs138205508
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.30
- MetaLR 0.41
- MetaSVM -0.44
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 0.24
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MBUTI population (allele frequency 0.25)
- Structural context available