A2E (p.Ala2Glu) variant of CASR (P41180)
A2E (p.Ala2Glu) in CASR (P41180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- cosmic curated COSV56138
- Ensembl rs2074527714
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- CADD 14.50
- PolyPhen-2 0.10
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available