D106G (p.Asp106Gly) variant of CALCRL (Q16602)
D106G (p.Asp106Gly) in CALCRL (Q16602) 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 0.32 / 1. The record also includes population frequency data and structural context.
D106G (p.Asp106Gly) variant details
- p.Asp106Gly
- NCI-TCGA Cosmic COSV6647
- cosmic curated COSV66474
- gnomAD rs1687942454
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.12
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.21
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available