M90V (p.Met90Val) variant of LCAT (P04180)
M90V (p.Met90Val) in LCAT (P04180) 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 0.45 / 1. The record also includes population frequency data and structural context.
M90V (p.Met90Val) variant details
- p.Met90Val
- ExAC rs765059218
- gnomAD rs765059218
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.52
- CADD 22.30
- PolyPhen-2 0.02
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available