P134R (p.Pro134Arg) variant of UNC13D (Protein unc-13 homolog D)
P134R (p.Pro134Arg) in UNC13D (Protein unc-13 homolog D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
P134R (p.Pro134Arg) variant details
- p.Pro134Arg
- ExAC rs752011807
- gnomAD rs752011807
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- REVEL 0.93
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available