L94F (p.Leu94Phe) variant of LCAT (P04180)
L94F (p.Leu94Phe) in LCAT (P04180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L94F (p.Leu94Phe) variant details
- p.Leu94Phe
- ExAC rs776536104
- gnomAD rs776536104
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.31
- CADD 17.70
- PolyPhen-2 0.02
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available