I52F (p.Ile52Phe) variant of CALCRL (Q16602)
I52F (p.Ile52Phe) in CALCRL (Q16602) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
I52F (p.Ile52Phe) variant details
- p.Ile52Phe
- ExAC rs751173685
- gnomAD rs751173685
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.20
- CADD 26.40
- PolyPhen-2 0.66
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00025)
- Structural context available