P12A (p.Pro12Ala) variant of RNF207 (RING finger protein 207)
P12A (p.Pro12Ala) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
P12A (p.Pro12Ala) variant details
- p.Pro12Ala
- gnomAD 1-6206569-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.03
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available