G40A (p.Gly40Ala) variant of SPINK5 (Q9NQ38)
G40A (p.Gly40Ala) in SPINK5 (Q9NQ38) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Ichthyosis linearis circumflexa; not provided; Netherton syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G40A (p.Gly40Ala) variant details
- p.Gly40Ala
- rs73269156
- ClinGen CA3495114
- ClinVar RCV000265588
- ClinVar RCV001706573
- Benign/Likely benign
- Ichthyosis linearis circumflexa; not provided; Netherton syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.27
- MetaLR 0.02
- MetaSVM -1.10
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Benign/Likely benign (Ichthyosis linearis circumflexa; not provided; Netherton syndrom)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available