K49T (p.Lys49Thr) variant of SPINK5 (Q9NQ38)
K49T (p.Lys49Thr) in SPINK5 (Q9NQ38) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
K49T (p.Lys49Thr) variant details
- p.Lys49Thr
- rs1490557744
- NCI-TCGA Cosmic COSV5624
- cosmic curated COSV56249
- TOPMed rs1490557744
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0747
- REVEL 0.04
- MetaLR 0.01
- MetaSVM -0.93
- CADD 1.50
- PolyPhen-2 0.01
- SIFT 0.27
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available