L53R (p.Leu53Arg) variant of ABCC6 (O95255)
L53R (p.Leu53Arg) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
L53R (p.Leu53Arg) variant details
- p.Leu53Arg
- ExAC rs766492973
- gnomAD rs766492973
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.43
- CADD 26.30
- PolyPhen-2 0.82
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available