N42S (p.Asn42Ser) variant of AQP1 (Aquaporin-1)
N42S (p.Asn42Ser) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
N42S (p.Asn42Ser) variant details
- p.Asn42Ser
- gnomAD rs1158595259
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.26
- MetaLR 0.51
- MetaSVM -0.12
- CADD 22.30
- PolyPhen-2 0.09
- SIFT 0.18
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available