A35T (p.Ala35Thr) variant of ABCC6 (O95255)
A35T (p.Ala35Thr) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A35T (p.Ala35Thr) variant details
- p.Ala35Thr
- gnomAD rs1417615917
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.09
- CADD 19.00
- PolyPhen-2 0.50
- SIFT 0.04
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available