S111P (p.Ser111Pro) variant of LCAT (P04180)
S111P (p.Ser111Pro) 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.
S111P (p.Ser111Pro) variant details
- p.Ser111Pro
- Ensembl rs2058300556
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.67
- CADD 25.10
- PolyPhen-2 0.60
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available