M1L (p.Met1Leu) variant of CASR (P41180)
M1L (p.Met1Leu) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Nephrolithiasis/nephrocalcinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs2107624704
- ClinGen CA354361909
- ClinVar RCV004061726
- Likely pathogenic
- Nephrolithiasis/nephrocalcinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- MetaLR 0.56
- MetaSVM 0.10
- PolyPhen-2 0.01
- SIFT 0.01
- MutPred 0.84
- ClinVar: Likely pathogenic (Nephrolithiasis/nephrocalcinosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available