D77N (p.Asp77Asn) variant of CALCRL (Q16602)
D77N (p.Asp77Asn) 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 0.43 / 1. The record also includes population frequency data and structural context.
D77N (p.Asp77Asn) variant details
- p.Asp77Asn
- NCI-TCGA Cosmic COSV6647
- cosmic curated COSV66475
- TOPMed rs1273852056
- gnomAD rs1273852056
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.31
- CADD 24.10
- PolyPhen-2 0.64
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available