Q58K (p.Gln58Lys) variant of ANKRD1 (Q15327)
Q58K (p.Gln58Lys) in ANKRD1 (Q15327) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
Q58K (p.Gln58Lys) variant details
- p.Gln58Lys
- gnomAD rs1290627165
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.03
- CADD 13.80
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.02)
- Structural context available