I50T (p.Ile50Thr) variant of ERCC5 (P28715)
I50T (p.Ile50Thr) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
I50T (p.Ile50Thr) variant details
- p.Ile50Thr
- TOPMed rs1377503714
- gnomAD rs1377503714
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- CADD 24.30
- PolyPhen-2 0.64
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available