A3T (p.Ala3Thr) variant of ABCC6 (O95255)
A3T (p.Ala3Thr) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- TOPMed rs1461014933
- gnomAD rs1461014933
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.04
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 3.5e-05)
- Structural context available