G94S (p.Gly94Ser) variant of KRT5 (Keratin, type II cytoskeletal 5)
G94S (p.Gly94Ser) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided. 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.
G94S (p.Gly94Ser) variant details
- p.Gly94Ser
- rs138806570
- ClinGen CA6582877
- ClinVar RCV000900885
- ClinVar RCV004731057
- Benign/Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.11
- CADD 10.30
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Benign/Likely benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.021)
- Structural context available