P41T (p.Pro41Thr) variant of ABCC6 (O95255)
P41T (p.Pro41Thr) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P41T (p.Pro41Thr) variant details
- p.Pro41Thr
- ExAC rs753761990
- TOPMed rs753761990
- gnomAD rs753761990
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.14
- CADD 22.60
- PolyPhen-2 0.20
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 0.00027)
- Structural context available