A136S (p.Ala136Ser) variant of ABCC9 (O60706)
A136S (p.Ala136Ser) in ABCC9 (O60706) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
A136S (p.Ala136Ser) variant details
- p.Ala136Ser
- rs1395854883
- ClinGen CA384129084
- ClinVar RCV001764956
- ClinVar RCV004988722
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.51
- CADD 25.70
- PolyPhen-2 0.15
- SIFT 0.35
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available