D108H (p.Asp108His) variant of CALCRL (Q16602)
D108H (p.Asp108His) in CALCRL (Q16602) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
D108H (p.Asp108His) variant details
- p.Asp108His
- gnomAD rs1408139222
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.39
- CADD 24.80
- PolyPhen-2 0.80
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available