T115A (p.Thr115Ala) variant of ABCC9 (O60706)
T115A (p.Thr115Ala) in ABCC9 (O60706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
T115A (p.Thr115Ala) variant details
- p.Thr115Ala
- cosmic curated COSV99684
- ExAC rs780689866
- gnomAD rs780689866
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.35
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available