T16I (p.Thr16Ile) variant of CSRP3 (P50461)
T16I (p.Thr16Ile) in CSRP3 (P50461) 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 0.81 / 1. The record also includes structural context.
T16I (p.Thr16Ile) variant details
- p.Thr16Ile
- rs397516857
- ClinGen CA134906
- ClinVar RCV000037785
- Ensembl rs397516857
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- AlphaMissense 0.56
- MetaLR 0.85
- MetaSVM 0.83
- PolyPhen-2 0.96
- SIFT 0.00
- MutPred 0.59
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available