P147A (p.Pro147Ala) variant of UNC13D (Protein unc-13 homolog D)
P147A (p.Pro147Ala) in UNC13D (Protein unc-13 homolog D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
P147A (p.Pro147Ala) variant details
- p.Pro147Ala
- gnomAD rs2064956888
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.05
- CADD 4.30
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available