D124N (p.Asp124Asn) variant of ABCA1 (O95477)
D124N (p.Asp124Asn) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
D124N (p.Asp124Asn) variant details
- p.Asp124Asn
- gnomAD rs865982523
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.38
- MetaLR 0.76
- MetaSVM 0.29
- CADD 18.80
- PolyPhen-2 0.12
- SIFT 0.17
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available