N39D (p.Asn39Asp) variant of SPINK5 (Q9NQ38)
N39D (p.Asn39Asp) in SPINK5 (Q9NQ38) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ichthyosis linearis circumflexa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
N39D (p.Asn39Asp) variant details
- p.Asn39Asp
- rs2531645995
- ClinGen CA361888253
- ClinVar RCV003764025
- Uncertain significance
- Ichthyosis linearis circumflexa
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.09
- MetaLR 0.03
- MetaSVM -1.07
- CADD 18.90
- PolyPhen-2 0.29
- SIFT 0.13
- ClinVar: Uncertain significance (Ichthyosis linearis circumflexa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available