T36I (p.Thr36Ile) variant of LCAT (P04180)
T36I (p.Thr36Ile) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Norum disease; Fish-eye disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
T36I (p.Thr36Ile) variant details
- p.Thr36Ile
- rs1371480236
- ClinGen CA396382684
- ClinVar RCV002626912
- ClinVar RCV005019298
- Uncertain significance
- not provided; Norum disease; Fish-eye disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.39
- CADD 22.30
- PolyPhen-2 0.17
- SIFT 0.10
- ClinVar: Uncertain significance (not provided; Norum disease; Fish-eye disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available