P7R (p.Pro7Arg) variant of LCAT (P04180)
P7R (p.Pro7Arg) in LCAT (P04180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
P7R (p.Pro7Arg) variant details
- p.Pro7Arg
- Ensembl rs2058314154
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.39
- CADD 18.10
- PolyPhen-2 0.12
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available