S23T (p.Ser23Thr) variant of KRT12 (Keratin, type I cytoskeletal 12)
S23T (p.Ser23Thr) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
S23T (p.Ser23Thr) variant details
- p.Ser23Thr
- gnomAD rs1416567493
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.12
- CADD 4.80
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available