M37I (p.Met37Ile) variant of SPINK5 (Q9NQ38)
M37I (p.Met37Ile) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
M37I (p.Met37Ile) variant details
- p.Met37Ile
- cosmic curated COSV10639
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.08
- MetaLR 0.02
- MetaSVM -1.11
- CADD 22.70
- PolyPhen-2 0.21
- SIFT 0.13
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available