K16R (p.Lys16Arg) variant of CTNNA1 (Catenin alpha-1)
K16R (p.Lys16Arg) in CTNNA1 (Catenin alpha-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Patterned macular dystrophy 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes structural context.
K16R (p.Lys16Arg) variant details
- p.Lys16Arg
- rs1276738001
- ClinGen CA361477122
- ClinVar RCV002297221
- ClinVar RCV003475332
- Uncertain significance
- Patterned macular dystrophy 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- AlphaMissense 0.79
- MetaLR 0.57
- MetaSVM 0.12
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.50
- ClinVar: Uncertain significance (Patterned macular dystrophy 2; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available