P41L (p.Pro41Leu) variant of ABCC6 (O95255)
P41L (p.Pro41Leu) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P41L (p.Pro41Leu) variant details
- p.Pro41Leu
- ExAC rs777631658
- gnomAD rs777631658
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.14
- CADD 23.60
- PolyPhen-2 0.20
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available