R126M (p.Arg126Met) variant of ABCC6 (O95255)
R126M (p.Arg126Met) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R126M (p.Arg126Met) variant details
- p.Arg126Met
- gnomAD rs2049008624
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.49
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.5e-05)
- Structural context available