I60V (p.Ile60Val) variant of SPINK5 (Q9NQ38)
I60V (p.Ile60Val) 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 0.14 / 1. The record also includes population frequency data and structural context.
I60V (p.Ile60Val) variant details
- p.Ile60Val
- rs1438419399
- ClinGen CA361888505
- ClinVar RCV001068597
- gnomAD rs1438419399
- Uncertain significance
- Netherton syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.00
- MetaLR 0.01
- MetaSVM -0.94
- CADD 3.66
- PolyPhen-2 0.01
- SIFT 0.41
- ClinVar: Uncertain significance (Netherton syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available