S37L (p.Ser37Leu) variant of AQP5 (Aquaporin-5)
S37L (p.Ser37Leu) in AQP5 (Aquaporin-5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S37L (p.Ser37Leu) variant details
- p.Ser37Leu
- rs1328341018
- NCI-TCGA Cosmic COSV5223
- gnomAD rs1328341018
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.27
- CADD 5.69
- PolyPhen-2 0.01
- SIFT 0.16
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available