K45R (p.Lys45Arg) variant of ALPL (P05186)
K45R (p.Lys45Arg) in ALPL (P05186) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
K45R (p.Lys45Arg) variant details
- p.Lys45Arg
- Ensembl rs1644471781
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.14
- CADD 13.80
- PolyPhen-2 0.03
- SIFT 0.19
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available