N39S (p.Asn39Ser) variant of SPINK5 (Q9NQ38)
N39S (p.Asn39Ser) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
N39S (p.Asn39Ser) variant details
- p.Asn39Ser
- ExAC rs757954624
- gnomAD rs757954624
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.07
- MetaLR 0.02
- MetaSVM -1.05
- CADD 15.20
- PolyPhen-2 0.16
- SIFT 0.13
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available