L16F (p.Leu16Phe) variant of SPINK5 (Q9NQ38)
L16F (p.Leu16Phe) in SPINK5 (Q9NQ38) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ichthyosis linearis circumflexa; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L16F (p.Leu16Phe) variant details
- p.Leu16Phe
- rs370369039
- ClinGen CA3495076
- ClinVar RCV002543489
- ClinVar RCV005095336
- Uncertain significance
- Ichthyosis linearis circumflexa; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.03
- MetaLR 0.11
- MetaSVM -1.01
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.23
- ClinVar: Uncertain significance (Ichthyosis linearis circumflexa; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- 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)