L104V (p.Leu104Val) variant of RELA (Transcription factor p65)
L104V (p.Leu104Val) in RELA (Transcription factor p65) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L104V (p.Leu104Val) variant details
- p.Leu104Val
- ExAC rs773613820
- gnomAD rs773613820
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.12
- CADD 24.40
- PolyPhen-2 0.98
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available