L11F (p.Leu11Phe) variant of CASR (P41180)
L11F (p.Leu11Phe) in CASR (P41180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L11F (p.Leu11Phe) variant details
- p.Leu11Phe
- gnomAD 3-122254222-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- CADD 17.10
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available