A68T (p.Ala68Thr) variant of ANKRD1 (Q15327)
A68T (p.Ala68Thr) 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 0.29 / 1. The record also includes population frequency data and structural context.
A68T (p.Ala68Thr) variant details
- p.Ala68Thr
- rs200249746
- ClinGen CA237040
- ClinVar RCV000171874
- gnomAD rs200249746
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.10
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available