F112L (p.Phe112Leu) variant of CALCRL (Q16602)
F112L (p.Phe112Leu) in CALCRL (Q16602) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
F112L (p.Phe112Leu) variant details
- p.Phe112Leu
- gnomAD rs1421400911
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.38
- CADD 23.20
- PolyPhen-2 0.53
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available