H80N (p.His80Asn) variant of RPA1 (P27694)
H80N (p.His80Asn) in RPA1 (P27694) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data.
H80N (p.His80Asn) variant details
- p.His80Asn
- ExAC rs766103262
- TOPMed rs766103262
- gnomAD rs766103262
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.59
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)