L136V (p.Leu136Val) variant of LCAT (P04180)
L136V (p.Leu136Val) in LCAT (P04180) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
L136V (p.Leu136Val) variant details
- p.Leu136Val
- 1000Genomes rs151178077
- ESP rs151178077
- ExAC rs151178077
- TOPMed rs151178077
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.42
- CADD 17.10
- PolyPhen-2 0.05
- SIFT 0.06
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available