T54N (p.Thr54Asn) variant of COMT (Catechol O-methyltransferase)
T54N (p.Thr54Asn) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
T54N (p.Thr54Asn) variant details
- p.Thr54Asn
- gnomAD 22-19962687-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.14
- MetaLR 0.26
- MetaSVM -0.70
- CADD 15.30
- PolyPhen-2 0.10
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available