L22P (p.Leu22Pro) variant of COMT (Catechol O-methyltransferase)
L22P (p.Leu22Pro) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L22P (p.Leu22Pro) variant details
- p.Leu22Pro
- gnomAD 22-19962591-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.18
- MetaLR 0.15
- MetaSVM -0.97
- CADD 8.56
- PolyPhen-2 0.01
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available