N69T (p.Asn69Thr) variant of AQP5 (Aquaporin-5)
N69T (p.Asn69Thr) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
N69T (p.Asn69Thr) variant details
- p.Asn69Thr
- gnomAD rs1473313840
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.90
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available