T14A (p.Thr14Ala) variant of SETD5 (Q9C0A6)
T14A (p.Thr14Ala) in SETD5 (Q9C0A6) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
T14A (p.Thr14Ala) variant details
- p.Thr14Ala
- Ensembl rs1559388263
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.43
- MetaLR 0.83
- MetaSVM 0.78
- CADD 23.80
- PolyPhen-2 0.98
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available