A20V (p.Ala20Val) variant of SPINK5 (Q9NQ38)
A20V (p.Ala20Val) 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 0.21 / 1. The record also includes population frequency data and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- rs777592836
- ClinGen CA3495090
- NCI-TCGA Cosmic COSV5625
- cosmic curated COSV56259
- Uncertain significance
- Netherton syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.04
- MetaLR 0.10
- MetaSVM -1.05
- CADD 25.70
- PolyPhen-2 0.28
- SIFT 0.20
- ClinVar: Uncertain significance (Netherton syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available