P8A (p.Pro8Ala) variant of REL (Proto-oncogene c-Rel)
P8A (p.Pro8Ala) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
P8A (p.Pro8Ala) variant details
- p.Pro8Ala
- rs911836734
- gnomAD 2-60891694-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.37
- MetaLR 0.51
- MetaSVM 0.04
- CADD 23.00
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available