E71K (p.Glu71Lys) variant of SPINK5 (Q9NQ38)
E71K (p.Glu71Lys) 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 0.28 / 1. The record also includes population frequency data and structural context.
E71K (p.Glu71Lys) variant details
- p.Glu71Lys
- rs761010013
- ClinGen CA3495147
- cosmic curated COSV56262
- ClinVar RCV003595670
- Uncertain significance
- Ichthyosis linearis circumflexa
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.12
- MetaLR 0.04
- MetaSVM -1.10
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.13
- ClinVar: Uncertain significance (Ichthyosis linearis circumflexa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available