K49N (p.Lys49Asn) variant of SPINK5 (Q9NQ38)
K49N (p.Lys49Asn) in SPINK5 (Q9NQ38) is a missense change. 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.
K49N (p.Lys49Asn) variant details
- p.Lys49Asn
- 1000Genomes rs1357830769
- TOPMed rs1357830769
- Missense
- Variant Prioritization Score for Impact Estimate 0.0685
- REVEL 0.03
- MetaLR 0.01
- MetaSVM -0.93
- CADD 0.31
- SIFT 0.63
- Population evidence available
- Structural context available