K21N (p.Lys21Asn) variant of ATP7B (Copper-transporting ATPase 2)
K21N (p.Lys21Asn) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
K21N (p.Lys21Asn) variant details
- p.Lys21Asn
- ExAC rs775666269
- TOPMed rs775666269
- gnomAD rs775666269
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 14.20
- PolyPhen-2 0.24
- SIFT 0.04
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available