K23T (p.Lys23Thr) variant of SPINK5 (Q9NQ38)
K23T (p.Lys23Thr) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
K23T (p.Lys23Thr) variant details
- p.Lys23Thr
- 1000Genomes rs566891063
- ExAC rs566891063
- gnomAD rs566891063
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.05
- MetaLR 0.06
- MetaSVM -1.03
- CADD 15.90
- SIFT 0.18
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available