T54A (p.Thr54Ala) variant of COMT (Catechol O-methyltransferase)
T54A (p.Thr54Ala) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
T54A (p.Thr54Ala) variant details
- p.Thr54Ala
- gnomAD rs1179632437
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.07
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available