N124S (p.Asn124Ser) variant of ABCC9 (O60706)
N124S (p.Asn124Ser) in ABCC9 (O60706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
N124S (p.Asn124Ser) variant details
- p.Asn124Ser
- ExAC rs781160274
- TOPMed rs781160274
- gnomAD rs781160274
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.68
- CADD 24.60
- PolyPhen-2 0.47
- SIFT 0.03
- Most common in the HGDP:PATHAN population (allele frequency 0.021)
- Structural context available