D30N (p.Asp30Asn) variant of ANKRD1 (Q15327)
D30N (p.Asp30Asn) 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 0.19 / 1. The record also includes population frequency data and structural context.
D30N (p.Asp30Asn) variant details
- p.Asp30Asn
- gnomAD rs1589510859
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.08
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.81
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available