P45S (p.Pro45Ser) variant of SPINK5 (Q9NQ38)
P45S (p.Pro45Ser) in SPINK5 (Q9NQ38) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Ichthyosis linearis circumflexa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
P45S (p.Pro45Ser) variant details
- p.Pro45Ser
- rs1025545434
- ClinGen CA361888340
- ClinVar RCV003368021
- ClinVar RCV003761578
- Conflicting interpretations
- Inborn genetic diseases; Ichthyosis linearis circumflexa
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.04
- MetaLR 0.01
- MetaSVM -0.94
- CADD 0.46
- PolyPhen-2 0.02
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Ichthyosis linearis circumflexa)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0007)
- 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)