H114Q (p.His114Gln) variant of CALCRL (Q16602)
H114Q (p.His114Gln) in CALCRL (Q16602) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
H114Q (p.His114Gln) variant details
- p.His114Gln
- ExAC rs767449144
- gnomAD rs767449144
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.38
- CADD 22.30
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available