L78S (p.Leu78Ser) variant of MAOA (P21397)
L78S (p.Leu78Ser) 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.
L78S (p.Leu78Ser) variant details
- p.Leu78Ser
- gnomAD X-43693355-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.90
- MetaLR 0.90
- MetaSVM 1.00
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available