L68V (p.Leu68Val) variant of ABCC6 (O95255)
L68V (p.Leu68Val) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L68V (p.Leu68Val) variant details
- p.Leu68Val
- ExAC rs748123458
- TOPMed rs748123458
- gnomAD rs748123458
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.22
- CADD 24.30
- PolyPhen-2 0.80
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available