A257D (p.Ala257Asp) variant of TH (Tyrosine 3-monooxygenase)
A257D (p.Ala257Asp) in TH (Tyrosine 3-monooxygenase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
A257D (p.Ala257Asp) variant details
- p.Ala257Asp
- rs1334929754
- gnomAD rs1334929754
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- AlphaMissense 0.10
- MetaLR 0.92
- MetaSVM 0.90
- PolyPhen-2 0.01
- SIFT 0.23
- EVE 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available