T21M (p.Thr21Met) variant of AQP1 (Aquaporin-1)
T21M (p.Thr21Met) in AQP1 (Aquaporin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
T21M (p.Thr21Met) variant details
- p.Thr21Met
- rs746048942
- ClinGen CA4208034
- ClinVar RCV004298771
- ExAC rs746048942
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.36
- MetaLR 0.75
- MetaSVM 0.06
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available