T51A (p.Thr51Ala) variant of ERCC3 (P19447)
T51A (p.Thr51Ala) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
T51A (p.Thr51Ala) variant details
- p.Thr51Ala
- TOPMed rs1353065985
- gnomAD rs1353065985
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.94
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available