P30R (p.Pro30Arg) variant of TG (Thyroglobulin)
P30R (p.Pro30Arg) in TG (Thyroglobulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
P30R (p.Pro30Arg) variant details
- p.Pro30Arg
- gnomAD 8-132868136-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.35
- MetaLR 0.35
- MetaSVM -0.47
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available