N54D (p.Asn54Asp) variant of CALM3 (Calmodulin-3)
N54D (p.Asn54Asp) in CALM3 (Calmodulin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
N54D (p.Asn54Asp) variant details
- p.Asn54Asp
- cosmic curated COSV10439
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.56
- MetaLR 0.18
- MetaSVM -0.62
- CADD 24.80
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available