M58T (p.Met58Thr) variant of SPINK5 (Q9NQ38)
M58T (p.Met58Thr) 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 0.09 / 1. The record also includes population frequency data and structural context.
M58T (p.Met58Thr) variant details
- p.Met58Thr
- rs773557840
- ClinGen CA3495120
- ClinVar RCV001924317
- ExAC rs773557840
- Uncertain significance
- Netherton syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.0935
- REVEL 0.08
- MetaLR 0.01
- MetaSVM -0.93
- CADD 0.16
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Uncertain significance (Netherton syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available