M58I (p.Met58Ile) variant of SPINK5 (Q9NQ38)
M58I (p.Met58Ile) in SPINK5 (Q9NQ38) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
M58I (p.Met58Ile) variant details
- p.Met58Ile
- rs771729229
- ClinGen CA3495121
- ClinVar RCV002693460
- ExAC rs771729229
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0954
- REVEL 0.08
- MetaLR 0.01
- MetaSVM -0.93
- CADD 0.51
- PolyPhen-2 0.00
- SIFT 0.49
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)