D123G (p.Asp123Gly) variant of CALM1 (Calmodulin-1)
D123G (p.Asp123Gly) in CALM1 (Calmodulin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
D123G (p.Asp123Gly) variant details
- p.Asp123Gly
- cosmic curated COSV10962
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.69
- MetaLR 0.31
- MetaSVM -0.40
- CADD 25.40
- PolyPhen-2 0.10
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available