K48N (p.Lys48Asn) variant of SPINK5 (Q9NQ38)
K48N (p.Lys48Asn) 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.
K48N (p.Lys48Asn) variant details
- p.Lys48Asn
- gnomAD rs1490014656
- Missense
- Variant Prioritization Score for Impact Estimate 0.0712
- REVEL 0.01
- MetaLR 0.01
- MetaSVM -0.95
- CADD 3.44
- PolyPhen-2 0.01
- SIFT 0.52
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available