N156T (p.Asn156Thr) variant of ITPR2 (Q14571)
N156T (p.Asn156Thr) in ITPR2 (Q14571) is a missense change. Clinical records from ClinVar 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 0.72 / 1. The record also includes population frequency data and structural context.
N156T (p.Asn156Thr) variant details
- p.Asn156Thr
- 1000Genomes rs539901221
- ExAC rs539901221
- gnomAD rs539901221
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.78
- CADD 26.00
- PolyPhen-2 0.67
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available