F127V (p.Phe127Val) variant of LCAT (P04180)
F127V (p.Phe127Val) in LCAT (P04180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
F127V (p.Phe127Val) variant details
- p.Phe127Val
- gnomAD rs1446799939
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.93
- AlphaMissense 0.99
- MetaLR 0.11
- MetaSVM -1.01
- CADD 26.30
- PolyPhen-2 0.62
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available