K41T (p.Lys41Thr) variant of SPINK5 (Q9NQ38)
K41T (p.Lys41Thr) 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 0.19 / 1. The record also includes population frequency data and structural context.
K41T (p.Lys41Thr) variant details
- p.Lys41Thr
- rs746648914
- ClinGen CA3495115
- ClinVar RCV003770936
- ExAC rs746648914
- Uncertain significance
- Ichthyosis linearis circumflexa
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.14
- MetaLR 0.02
- MetaSVM -1.00
- CADD 14.80
- PolyPhen-2 0.09
- SIFT 0.05
- ClinVar: Uncertain significance (Ichthyosis linearis circumflexa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available