A88T (p.Ala88Thr) variant of UNC13D (Protein unc-13 homolog D)
A88T (p.Ala88Thr) in UNC13D (Protein unc-13 homolog D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
A88T (p.Ala88Thr) variant details
- p.Ala88Thr
- cosmic curated COSV10454
- ExAC rs749977344
- gnomAD rs749977344
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.30
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available