L43P (p.Leu43Pro) variant of COMT (Catechol O-methyltransferase)
L43P (p.Leu43Pro) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
L43P (p.Leu43Pro) variant details
- p.Leu43Pro
- gnomAD rs1261617944
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.45
- CADD 21.40
- PolyPhen-2 0.46
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available