D27Y (p.Asp27Tyr) variant of ANKRD1 (Q15327)
D27Y (p.Asp27Tyr) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, 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 0.42 / 1. The record also includes structural context.
D27Y (p.Asp27Tyr) variant details
- p.Asp27Tyr
- rs1847422222
- ClinGen CA377554025
- ClinVar RCV001760763
- Ensembl rs1847422222
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- AlphaMissense 0.18
- MetaLR 0.31
- MetaSVM -0.43
- PolyPhen-2 0.91
- SIFT 0.01
- MutPred 0.38
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available