P45H (p.Pro45His) variant of SPINK5 (Q9NQ38)
P45H (p.Pro45His) in SPINK5 (Q9NQ38) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
P45H (p.Pro45His) variant details
- p.Pro45His
- TOPMed rs951311428
- gnomAD rs951311428
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.09
- MetaLR 0.04
- MetaSVM -1.08
- CADD 21.30
- PolyPhen-2 0.87
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available