T5P (p.Thr5Pro) variant of SPINK5 (Q9NQ38)
T5P (p.Thr5Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
T5P (p.Thr5Pro) variant details
- p.Thr5Pro
- ExAC rs769595604
- gnomAD rs769595604
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.13
- MetaLR 0.20
- MetaSVM -0.94
- CADD 18.50
- PolyPhen-2 0.61
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available