A116T (p.Ala116Thr) variant of CALCRL (Q16602)
A116T (p.Ala116Thr) in CALCRL (Q16602) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A116T (p.Ala116Thr) variant details
- p.Ala116Thr
- gnomAD rs1266990120
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.07
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available