P66S (p.Pro66Ser) variant of ERCC3 (P19447)
P66S (p.Pro66Ser) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P66S (p.Pro66Ser) variant details
- p.Pro66Ser
- cosmic curated COSV10725
- Ensembl rs2104782881
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.05
- ESM-1b 0.43
- AlphaMissense 0.07
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.48
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available