M29I (p.Met29Ile) variant of SPINK5 (Q9NQ38)
M29I (p.Met29Ile) 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 and structural context.
M29I (p.Met29Ile) variant details
- p.Met29Ile
- TOPMed rs1752703716
- Missense
- Variant Prioritization Score for Impact Estimate 0.0583
- REVEL 0.01
- MetaLR 0.00
- MetaSVM -0.94
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available