P41A (p.Pro41Ala) variant of ABCC6 (O95255)
P41A (p.Pro41Ala) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
P41A (p.Pro41Ala) variant details
- p.Pro41Ala
- ExAC rs753761990
- TOPMed rs753761990
- gnomAD rs753761990
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.13
- CADD 18.80
- PolyPhen-2 0.14
- SIFT 0.15
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available