T12M (p.Thr12Met) variant of LCAT (P04180)
T12M (p.Thr12Met) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fish-eye disease; Norum disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
T12M (p.Thr12Met) variant details
- p.Thr12Met
- rs560140762
- ClinGen CA8121180
- ClinVar RCV002033242
- ClinVar RCV002468342
- Uncertain significance
- Fish-eye disease; Norum disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.27
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (Fish-eye disease; Norum disease; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available