T82A (p.Thr82Ala) variant of CALCRL (Q16602)
T82A (p.Thr82Ala) in CALCRL (Q16602) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
T82A (p.Thr82Ala) variant details
- p.Thr82Ala
- ESP rs150453265
- ExAC rs150453265
- TOPMed rs150453265
- gnomAD rs150453265
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.08
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.29
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available