A117P (p.Ala117Pro) variant of LCAT (P04180)
A117P (p.Ala117Pro) in LCAT (P04180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A117P (p.Ala117Pro) variant details
- p.Ala117Pro
- gnomAD 16-67939916-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0879
- CADD 1.37
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available