P53L (p.Pro53Leu) variant of ERCC5 (P28715)
P53L (p.Pro53Leu) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
P53L (p.Pro53Leu) variant details
- p.Pro53Leu
- cosmic curated COSV10745
- Ensembl rs2140517307
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available