L137V (p.Leu137Val) variant of UNC13D (Protein unc-13 homolog D)
L137V (p.Leu137Val) in UNC13D (Protein unc-13 homolog D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
L137V (p.Leu137Val) variant details
- p.Leu137Val
- ExAC rs766811211
- gnomAD rs766811211
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.18
- CADD 23.90
- PolyPhen-2 0.91
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available