P7S (p.Pro7Ser) variant of ABCC6 (O95255)
P7S (p.Pro7Ser) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P7S (p.Pro7Ser) variant details
- p.Pro7Ser
- gnomAD rs1472500361
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.06
- CADD 9.15
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available