T37I (p.Thr37Ile) variant of MSH3 (DNA mismatch repair protein Msh3)
T37I (p.Thr37Ile) in MSH3 (DNA mismatch repair protein Msh3) 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 0.22 / 1. The record also includes population frequency data and structural context.
T37I (p.Thr37Ile) variant details
- p.Thr37Ile
- rs759573423
- ClinGen CA3327436
- ClinVar RCV003682477
- ExAC rs759573423
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.14
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.03
- 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