A937V (p.Ala937Val) variant of ABCA1 (O95477)
A937V (p.Ala937Val) in ABCA1 (O95477) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Tangier disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
A937V (p.Ala937Val) variant details
- p.Ala937Val
- rs137854495
- ClinGen CA120482
- NCI-TCGA Cosmic COSV1010
- ClinVar RCV000010097
- Pathogenic
- Tangier disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.86
- MetaLR 0.78
- MetaSVM 0.68
- CADD 29.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Tangier disease)
- EBI: Pathogenic (in TGD)
- UniProt: Pathogenic (in TGD)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. (PMID 10431237)
- Cited in: Tangier Disease. (PMID 31751110)