R96K (p.Arg96Lys) variant of ANKRD1 (Q15327)
R96K (p.Arg96Lys) in ANKRD1 (Q15327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R96K (p.Arg96Lys) variant details
- p.Arg96Lys
- gnomAD rs1294402907
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.04
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.95
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available