Q14R (p.Gln14Arg) variant of CLCN5 (P51795)
Q14R (p.Gln14Arg) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
Q14R (p.Gln14Arg) variant details
- p.Gln14Arg
- TOPMed rs1557187251
- gnomAD rs1557187251
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.20
- MetaLR 0.43
- MetaSVM -0.59
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available