I28V (p.Ile28Val) variant of CALM1 (Calmodulin-1)
I28V (p.Ile28Val) in CALM1 (Calmodulin-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 0.54 / 1. The record also includes population frequency data and structural context.
I28V (p.Ile28Val) variant details
- p.Ile28Val
- rs763100441
- NCI-TCGA Cosmic COSV5219
- cosmic curated COSV52195
- ExAC rs763100441
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.50
- MetaLR 0.54
- MetaSVM 0.15
- CADD 23.70
- PolyPhen-2 0.21
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available