T4I (p.Thr4Ile) variant of CHM (P24386)
T4I (p.Thr4Ile) in CHM (P24386) 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 0.31 / 1. The record also includes published literature and structural context.
T4I (p.Thr4Ile) variant details
- p.Thr4Ile
- rs370525929
- ClinGen CA413788707
- ClinVar RCV002932684
- ClinVar RCV005608811
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- AlphaMissense 0.06
- MetaLR 0.05
- MetaSVM -1.12
- PolyPhen-2 0.00
- SIFT 0.35
- MutPred 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Choroideremia. (PMID 20301511)