M68I (p.Met68Ile) variant of SPINK5 (Q9NQ38)
M68I (p.Met68Ile) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
M68I (p.Met68Ile) variant details
- p.Met68Ile
- TOPMed rs1260851843
- Missense
- Variant Prioritization Score for Impact Estimate 0.0727
- REVEL 0.02
- MetaLR 0.02
- MetaSVM -0.95
- CADD 3.91
- PolyPhen-2 0.04
- SIFT 0.30
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available