T6A (p.Thr6Ala) variant of CALCRL (Q16602)
T6A (p.Thr6Ala) in CALCRL (Q16602) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
T6A (p.Thr6Ala) variant details
- p.Thr6Ala
- gnomAD rs1286832300
- Missense
- Variant Prioritization Score for Impact Estimate 0.0407
- REVEL 0.03
- CADD 0.01
- PolyPhen-2 0.01
- SIFT 0.47
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available