M42I (p.Met42Ile) variant of AQP7 (Aquaporin-7)
M42I (p.Met42Ile) in AQP7 (Aquaporin-7) 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 0.27 / 1. The record also includes population frequency data and structural context.
M42I (p.Met42Ile) variant details
- p.Met42Ile
- rs558128835
- NCI-TCGA Cosmic COSV9995
- cosmic curated COSV99953
- 1000Genomes rs558128835
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.22
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.09
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available