D47Y (p.Asp47Tyr) variant of SPINK5 (Q9NQ38)
D47Y (p.Asp47Tyr) 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 0.22 / 1. The record also includes population frequency data and structural context.
D47Y (p.Asp47Tyr) variant details
- p.Asp47Tyr
- rs199620733
- ClinGen CA3495116
- cosmic curated COSV56249
- ClinVar RCV000819283
- Uncertain significance
- Netherton syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.13
- MetaLR 0.04
- MetaSVM -1.10
- CADD 22.80
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Netherton syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available