Q30H (p.Gln30His) variant of UNC13D (Protein unc-13 homolog D)
Q30H (p.Gln30His) in UNC13D (Protein unc-13 homolog D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
Q30H (p.Gln30His) variant details
- p.Gln30His
- gnomAD rs1216024873
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.16
- CADD 22.10
- PolyPhen-2 0.26
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available