C136F (p.Cys136Phe) variant of UNC13D (Protein unc-13 homolog D)
C136F (p.Cys136Phe) in UNC13D (Protein unc-13 homolog D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
C136F (p.Cys136Phe) variant details
- p.Cys136Phe
- gnomAD rs1188800286
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.66
- CADD 29.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available