A13S (p.Ala13Ser) variant of SPINK5 (Q9NQ38)
A13S (p.Ala13Ser) in SPINK5 (Q9NQ38) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ichthyosis linearis circumflexa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A13S (p.Ala13Ser) variant details
- p.Ala13Ser
- rs2127180984
- ClinGen CA361887389
- cosmic curated COSV10954
- ClinVar RCV003772993
- Uncertain significance
- Ichthyosis linearis circumflexa
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.19
- MetaLR 0.33
- MetaSVM -0.68
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Ichthyosis linearis circumflexa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available