N61S (p.Asn61Ser) variant of SPINK5 (Q9NQ38)
N61S (p.Asn61Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
N61S (p.Asn61Ser) variant details
- p.Asn61Ser
- rs377031902
- ClinGen CA3495123
- ClinVar RCV006465817
- ESP rs377031902
- Uncertain significance
- Ichthyosis linearis circumflexa
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.03
- CADD 8.80
- PolyPhen-2 0.04
- SIFT 0.13
- ClinVar: Uncertain significance (Ichthyosis linearis circumflexa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available