N71T (p.Asn71Thr) variant of AQP7 (Aquaporin-7)
N71T (p.Asn71Thr) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
N71T (p.Asn71Thr) variant details
- p.Asn71Thr
- ExAC rs746373896
- TOPMed rs746373896
- gnomAD rs746373896
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.71
- CADD 24.60
- PolyPhen-2 0.67
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available