G24R (p.Gly24Arg) variant of KRT4 (Keratin, type II cytoskeletal 4)
G24R (p.Gly24Arg) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G24R (p.Gly24Arg) variant details
- p.Gly24Arg
- ESP rs371503785
- ExAC rs371503785
- TOPMed rs371503785
- gnomAD rs371503785
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.45
- CADD 15.20
- PolyPhen-2 1.00
- SIFT 0.09
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available