K27N (p.Lys27Asn) variant of ALPL (P05186)
K27N (p.Lys27Asn) in ALPL (P05186) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. 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.
K27N (p.Lys27Asn) variant details
- p.Lys27Asn
- TOPMed rs1644469640
- gnomAD rs1644469640
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.17
- CADD 10.10
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available