L31F (p.Leu31Phe) variant of LCAT (P04180)
L31F (p.Leu31Phe) in LCAT (P04180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
L31F (p.Leu31Phe) variant details
- p.Leu31Phe
- TOPMed rs2058313346
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.50
- CADD 23.50
- PolyPhen-2 0.67
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available