G113D (p.Gly113Asp) variant of KRT10 (Keratin, type I cytoskeletal 10)
G113D (p.Gly113Asp) in KRT10 (Keratin, type I cytoskeletal 10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
G113D (p.Gly113Asp) variant details
- p.Gly113Asp
- rs371456379
- ClinGen CA8548314
- ClinVar RCV000841356
- ESP rs371456379
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.42
- CADD 19.80
- PolyPhen-2 1.00
- SIFT 0.16
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)