F51L (p.Phe51Leu) variant of SPINK5 (Q9NQ38)
F51L (p.Phe51Leu) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
F51L (p.Phe51Leu) variant details
- p.Phe51Leu
- TOPMed rs1296743627
- gnomAD rs1296743627
- Missense
- Variant Prioritization Score for Impact Estimate 0.0842
- REVEL 0.02
- MetaLR 0.02
- MetaSVM -1.00
- CADD 7.62
- PolyPhen-2 0.01
- SIFT 0.50
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available