E29D (p.Glu29Asp) variant of CALCRL (Q16602)
E29D (p.Glu29Asp) 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 0.06 / 1. The record also includes population frequency data and structural context.
E29D (p.Glu29Asp) variant details
- p.Glu29Asp
- NCI-TCGA Cosmic COSV6647
- cosmic curated COSV66475
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0646
- REVEL 0.07
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.47
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available