V58M (p.Val58Met) variant of CASR (P41180)
V58M (p.Val58Met) in CASR (P41180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
V58M (p.Val58Met) variant details
- p.Val58Met
- gnomAD 3-122254361-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- CADD 22.60
- PolyPhen-2 0.57
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available