N39K (p.Asn39Lys) variant of SPINK5 (Q9NQ38)
N39K (p.Asn39Lys) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
N39K (p.Asn39Lys) variant details
- p.Asn39Lys
- gnomAD 5-148070358-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.05
- MetaLR 0.02
- MetaSVM -0.94
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available