A37T (p.Ala37Thr) variant of KRT18 (Keratin, type I cytoskeletal 18)
A37T (p.Ala37Thr) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
A37T (p.Ala37Thr) variant details
- p.Ala37Thr
- cosmic curated COSV66316
- gnomAD rs1281260117
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.48
- CADD 26.50
- PolyPhen-2 0.10
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available