D32N (p.Asp32Asn) variant of CLCN5 (P51795)
D32N (p.Asp32Asn) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
D32N (p.Asp32Asn) variant details
- p.Asp32Asn
- gnomAD X-50042393-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.33
- MetaLR 0.51
- MetaSVM -0.36
- CADD 22.40
- PolyPhen-2 0.10
- SIFT 0.10
- Most common in the Latino/Admixed American population (allele frequency 3.4e-05)
- Structural context available
- Literature evidence available