G96S (p.Gly96Ser) variant of KRT1 (Keratin, type II cytoskeletal 1)
G96S (p.Gly96Ser) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
G96S (p.Gly96Ser) variant details
- p.Gly96Ser
- ExAC rs753373623
- TOPMed rs753373623
- gnomAD rs753373623
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.18
- CADD 11.00
- PolyPhen-2 0.01
- SIFT 0.43
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available