T34I (p.Thr34Ile) variant of CALR (Calreticulin)
T34I (p.Thr34Ile) in CALR (Calreticulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
T34I (p.Thr34Ile) variant details
- p.Thr34Ile
- rs764831280
- ClinGen CA404301869
- ClinVar RCV004158061
- ExAC rs764831280
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.06
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available