T3I (p.Thr3Ile) variant of LYST (Lysosomal-trafficking regulator)
T3I (p.Thr3Ile) in LYST (Lysosomal-trafficking regulator) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
T3I (p.Thr3Ile) variant details
- p.Thr3Ile
- cosmic curated COSV10972
- 1000Genomes rs548589202
- ExAC rs548589202
- TOPMed rs548589202
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.06
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available