A2V (p.Ala2Val) variant of UNC13D (Protein unc-13 homolog D)
A2V (p.Ala2Val) in UNC13D (Protein unc-13 homolog D) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Familial hemophagocytic lymphohistiocytosis 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs752295384
- ClinGen CA8773703
- cosmic curated COSV52887
- ClinVar RCV001967088
- Uncertain significance
- not specified; Familial hemophagocytic lymphohistiocytosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.16
- CADD 23.30
- PolyPhen-2 0.21
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Familial hemophagocytic lymphohistiocytosis 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available