K239T (p.Lys239Thr) variant of VPS35 (Q96QK1)
K239T (p.Lys239Thr) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
K239T (p.Lys239Thr) variant details
- p.Lys239Thr
- gnomAD rs1966191977
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.41
- CADD 22.80
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available