F36L (p.Phe36Leu) variant of SPINK5 (Q9NQ38)
F36L (p.Phe36Leu) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
F36L (p.Phe36Leu) variant details
- p.Phe36Leu
- gnomAD 5-148070347-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0641
- REVEL 0.01
- MetaLR 0.00
- MetaSVM -0.91
- CADD 0.05
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available