Y8N (p.Tyr8Asn) variant of CALCRL (Q16602)
Y8N (p.Tyr8Asn) in CALCRL (Q16602) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
Y8N (p.Tyr8Asn) variant details
- p.Tyr8Asn
- rs698577
- UniProt VAR 054822
- 1000Genomes rs698577
- ESP rs698577
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- CADD 6.57
- PolyPhen-2 0.01
- SIFT 0.23
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.12)
- Structural context available
- Cited in: A human orphan calcitonin receptor-like structure. (PMID 7818539)
- Cited in: A cDNA encoding the calcitonin gene-related peptide type 1 receptor. (PMID 8626685)