V70M (p.Val70Met) variant of KRT3 (Keratin, type II cytoskeletal 3)
V70M (p.Val70Met) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
V70M (p.Val70Met) variant details
- p.Val70Met
- rs150657845
- ClinGen CA6588277
- ClinVar RCV003696856
- 1000Genomes rs150657845
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.21
- CADD 12.40
- PolyPhen-2 0.08
- SIFT 0.23
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available