G53S (p.Gly53Ser) variant of KRT1 (Keratin, type II cytoskeletal 1)
G53S (p.Gly53Ser) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
G53S (p.Gly53Ser) variant details
- p.Gly53Ser
- gnomAD rs1480969836
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.17
- CADD 7.38
- PolyPhen-2 0.01
- SIFT 0.16
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available