M70T (p.Met70Thr) variant of AQP4 (Aquaporin-4)
M70T (p.Met70Thr) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
M70T (p.Met70Thr) variant details
- p.Met70Thr
- gnomAD 18-26862420-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.35
- MetaLR 0.38
- MetaSVM -0.47
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available