R104K (p.Arg104Lys) variant of LCAT (P04180)
R104K (p.Arg104Lys) in LCAT (P04180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
R104K (p.Arg104Lys) variant details
- p.Arg104Lys
- TOPMed rs1282287185
- gnomAD rs1282287185
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.67
- CADD 35.00
- PolyPhen-2 0.99
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available