Y53D (p.Tyr53Asp) variant of KRT9 (Keratin, type I cytoskeletal 9)
Y53D (p.Tyr53Asp) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
Y53D (p.Tyr53Asp) variant details
- p.Tyr53Asp
- TOPMed rs1484119263
- gnomAD rs1484119263
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.27
- CADD 17.60
- PolyPhen-2 0.19
- SIFT 0.02
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available