L31R (p.Leu31Arg) variant of LCAT (P04180)
L31R (p.Leu31Arg) in LCAT (P04180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
L31R (p.Leu31Arg) variant details
- p.Leu31Arg
- TOPMed rs1403044426
- gnomAD rs1403044426
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.79
- CADD 26.30
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available