D19A (p.Asp19Ala) variant of SPINK5 (Q9NQ38)
D19A (p.Asp19Ala) in SPINK5 (Q9NQ38) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Netherton syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
D19A (p.Asp19Ala) variant details
- p.Asp19Ala
- rs1204188199
- ClinGen CA361887442
- ClinVar RCV001924958
- TOPMed rs1204188199
- Uncertain significance
- Netherton syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.19
- MetaLR 0.15
- MetaSVM -0.90
- CADD 23.00
- PolyPhen-2 0.17
- SIFT 0.01
- ClinVar: Uncertain significance (Netherton syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available