T43A (p.Thr43Ala) variant of CALCRL (Q16602)
T43A (p.Thr43Ala) in CALCRL (Q16602) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
T43A (p.Thr43Ala) variant details
- p.Thr43Ala
- ExAC rs764357347
- TOPMed rs764357347
- gnomAD rs764357347
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.05
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.88
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available