S55L (p.Ser55Leu) variant of NLRP1 (Q9C000)
S55L (p.Ser55Leu) in NLRP1 (Q9C000) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-l. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data.
S55L (p.Ser55Leu) variant details
- p.Ser55Leu
- rs201750573
- ClinGen CA8327641
- ClinVar RCV001944839
- ClinVar RCV002506915
- Uncertain significance
- not provided; Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-l
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- CADD 23.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Corneal intraepithelial dyskeratosis-palmoplantar)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Amish population (allele frequency 0.012)