P30H (p.Pro30His) variant of RAD50 (DNA repair protein RAD50)
P30H (p.Pro30His) in RAD50 (DNA repair protein RAD50) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
P30H (p.Pro30His) variant details
- p.Pro30His
- gnomAD rs1229919059
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- AlphaMissense 0.95
- MetaLR 0.06
- MetaSVM -1.22
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available