H51Y (p.His51Tyr) variant of ANKRD1 (Q15327)
H51Y (p.His51Tyr) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes structural context.
H51Y (p.His51Tyr) variant details
- p.His51Tyr
- rs1554827989
- ClinGen CA377553616
- ClinVar RCV000624226
- Ensembl rs1554827989
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- AlphaMissense 0.07
- MetaLR 0.20
- MetaSVM -0.86
- PolyPhen-2 0.00
- SIFT 0.29
- MutPred 0.33
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available