Q15R (p.Gln15Arg) variant of CLCN5 (P51795)
Q15R (p.Gln15Arg) in CLCN5 (P51795) 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.
Q15R (p.Gln15Arg) variant details
- p.Gln15Arg
- ExAC rs782084525
- TOPMed rs782084525
- gnomAD rs782084525
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.24
- MetaLR 0.34
- MetaSVM -0.72
- CADD 12.90
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 3.2e-05)
- Structural context available