P8T (p.Pro8Thr) variant of RNF207 (RING finger protein 207)
P8T (p.Pro8Thr) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
P8T (p.Pro8Thr) variant details
- p.Pro8Thr
- gnomAD 1-6206557-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.04
- CADD 16.00
- PolyPhen-2 0.19
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available