K61N (p.Lys61Asn) variant of ANKRD1 (Q15327)
K61N (p.Lys61Asn) 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 0.26 / 1. The record also includes population frequency data and structural context.
K61N (p.Lys61Asn) variant details
- p.Lys61Asn
- rs2120273603
- ClinGen CA377553372
- ClinVar RCV001757104
- Ensembl rs2120273603
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.06
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available