K74R (p.Lys74Arg) variant of ALPL (P05186)
K74R (p.Lys74Arg) in ALPL (P05186) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
K74R (p.Lys74Arg) variant details
- p.Lys74Arg
- ESP rs143885304
- ExAC rs143885304
- TOPMed rs143885304
- gnomAD rs143885304
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.72
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available