T21A (p.Thr21Ala) variant of AQP1 (Aquaporin-1)
T21A (p.Thr21Ala) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
T21A (p.Thr21Ala) variant details
- p.Thr21Ala
- gnomAD 7-30911970-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.73
- MetaLR 0.89
- MetaSVM 0.88
- CADD 24.00
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available