T34N (p.Thr34Asn) variant of CALR (Calreticulin)
T34N (p.Thr34Asn) in CALR (Calreticulin) 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 0.24 / 1. The record also includes population frequency data and structural context.
T34N (p.Thr34Asn) variant details
- p.Thr34Asn
- ExAC rs764831280
- gnomAD rs764831280
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.07
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available