R32K (p.Arg32Lys) variant of FERMT1 (Fermitin family homolog 1)
R32K (p.Arg32Lys) in FERMT1 (Fermitin family homolog 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R32K (p.Arg32Lys) variant details
- p.Arg32Lys
- rs760234003
- NCI-TCGA Cosmic COSV9945
- ExAC rs760234003
- gnomAD rs760234003
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.22
- CADD 15.40
- PolyPhen-2 0.10
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available