A148T (p.Ala148Thr) variant of ABCC6 (O95255)
A148T (p.Ala148Thr) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A148T (p.Ala148Thr) variant details
- p.Ala148Thr
- Ensembl rs2049006458
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.06
- CADD 15.40
- PolyPhen-2 0.16
- SIFT 0.24
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available