T54A (p.Thr54Ala) variant of MAOA (P21397)
T54A (p.Thr54Ala) in MAOA (P21397) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
T54A (p.Thr54Ala) variant details
- p.Thr54Ala
- gnomAD X-43683599-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.90
- MetaLR 0.91
- MetaSVM 1.04
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available