S77L (p.Ser77Leu) variant of ARNT (P27540)
S77L (p.Ser77Leu) in ARNT (P27540) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. 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.
S77L (p.Ser77Leu) variant details
- p.Ser77Leu
- rs779105288
- ClinGen CA1081241
- cosmic curated COSV10525
- ClinVar RCV004074389
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.13
- CADD 23.40
- PolyPhen-2 0.02
- SIFT 0.25
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available