D44N (p.Asp44Asn) variant of CLCN5 (P51795)
D44N (p.Asp44Asn) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
D44N (p.Asp44Asn) variant details
- p.Asp44Asn
- gnomAD rs1557187306
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.40
- MetaLR 0.58
- MetaSVM -0.00
- CADD 23.60
- PolyPhen-2 0.45
- SIFT 0.01
- Most common in the East Asian population (allele frequency 3.8e-05)
- Structural context available