P108R (p.Pro108Arg) variant of ABCC6 (O95255)
P108R (p.Pro108Arg) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
P108R (p.Pro108Arg) variant details
- p.Pro108Arg
- TOPMed rs1260978010
- gnomAD rs1260978010
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.37
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.2e-06)
- Structural context available