Q142H (p.Gln142His) variant of UNC13D (Protein unc-13 homolog D)
Q142H (p.Gln142His) in UNC13D (Protein unc-13 homolog D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
Q142H (p.Gln142His) variant details
- p.Gln142His
- Ensembl rs2064956987
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.07
- CADD 13.30
- PolyPhen-2 0.01
- SIFT 0.59
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available