L13F (p.Leu13Phe) variant of CASR (P41180)
L13F (p.Leu13Phe) in CASR (P41180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
L13F (p.Leu13Phe) variant details
- p.Leu13Phe
- TOPMed rs201731619
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- CADD 9.62
- PolyPhen-2 0.00
- SIFT 0.50
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available