C63S (p.Cys63Ser) variant of ERCC5 (P28715)
C63S (p.Cys63Ser) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
C63S (p.Cys63Ser) variant details
- p.Cys63Ser
- ExAC rs772466904
- gnomAD rs772466904
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available