P10L (p.Pro10Leu) variant of RELA (Transcription factor p65)
P10L (p.Pro10Leu) in RELA (Transcription factor p65) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
P10L (p.Pro10Leu) variant details
- p.Pro10Leu
- rs368784411
- ClinGen CA224011379
- cosmic curated COSV10589
- ClinVar RCV002583597
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.09
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)