Q27R (p.Gln27Arg) variant of SPINK5 (Q9NQ38)
Q27R (p.Gln27Arg) in SPINK5 (Q9NQ38) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Ichthyosis linearis circumflexa; Netherton syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
Q27R (p.Gln27Arg) variant details
- p.Gln27Arg
- rs778915520
- ClinGen CA3495094
- cosmic curated COSV56263
- ClinVar RCV003763944
- Conflicting interpretations
- Ichthyosis linearis circumflexa; Netherton syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.10
- MetaLR 0.13
- MetaSVM -0.95
- CADD 28.00
- PolyPhen-2 0.22
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Ichthyosis linearis circumflexa; Netherton syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available