G156V (p.Gly156Val) variant of ABCA1 (O95477)
G156V (p.Gly156Val) in ABCA1 (O95477) 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 0.50 / 1. The record also includes population frequency data and structural context.
G156V (p.Gly156Val) variant details
- p.Gly156Val
- rs369793332
- ClinGen CA5169383
- ClinVar RCV003118574
- ESP rs369793332
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.58
- MetaLR 0.77
- MetaSVM 0.46
- CADD 15.60
- PolyPhen-2 0.02
- SIFT 0.30
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available