L13C (p.Leu13Cys) variant of COMT (Catechol O-methyltransferase)
L13C (p.Leu13Cys) in COMT (Catechol O-methyltransferase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L13C (p.Leu13Cys) variant details
- p.Leu13Cys
- gnomAD 22-19962561-TGTTG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.254
- CADD 24.50
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available