Y36S (p.Tyr36Ser) variant of KRT18 (Keratin, type I cytoskeletal 18)
Y36S (p.Tyr36Ser) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
Y36S (p.Tyr36Ser) variant details
- p.Tyr36Ser
- rs891346528
- ClinGen CA237289602
- ClinVar RCV004087252
- TOPMed rs891346528
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.70
- CADD 26.00
- PolyPhen-2 0.55
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available