T65M (p.Thr65Met) variant of SPINK5 (Q9NQ38)
T65M (p.Thr65Met) in SPINK5 (Q9NQ38) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Ichthyosis linearis circumflexa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
T65M (p.Thr65Met) variant details
- p.Thr65Met
- rs552548594
- ClinGen CA3495125
- NCI-TCGA Cosmic COSV9980
- cosmic curated COSV99806
- Uncertain significance
- not provided; Ichthyosis linearis circumflexa
- Missense
- Variant Prioritization Score for Impact Estimate 0.0712
- REVEL 0.03
- MetaLR 0.01
- MetaSVM -0.93
- CADD 1.10
- PolyPhen-2 0.02
- SIFT 0.65
- ClinVar: Uncertain significance (not provided; Ichthyosis linearis circumflexa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available