G126S (p.Gly126Ser) variant of LCAT (P04180)
G126S (p.Gly126Ser) in LCAT (P04180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
G126S (p.Gly126Ser) variant details
- p.Gly126Ser
- gnomAD rs1211248313
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.84
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available