M29V (p.Met29Val) variant of SPINK5 (Q9NQ38)
M29V (p.Met29Val) 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 0.06 / 1. The record also includes population frequency data and structural context.
M29V (p.Met29Val) variant details
- p.Met29Val
- rs946715933
- ClinGen CA129717598
- ClinVar RCV003595721
- TOPMed rs946715933
- Uncertain significance
- Ichthyosis linearis circumflexa
- Missense
- Variant Prioritization Score for Impact Estimate 0.0588
- REVEL 0.01
- MetaLR 0.01
- MetaSVM -0.92
- CADD 0.16
- SIFT 0.36
- ClinVar: Uncertain significance (Ichthyosis linearis circumflexa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available