I30V (p.Ile30Val) variant of MED13L (Q71F56)
I30V (p.Ile30Val) in MED13L (Q71F56) 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 0.61 / 1. The record also includes population frequency data and structural context.
I30V (p.Ile30Val) variant details
- p.Ile30Val
- rs2138459773
- ClinGen CA386927698
- ClinVar RCV001773052
- Ensembl rs2138459773
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.70
- ESM-1b 0.00
- AlphaMissense 0.54
- CADD 26.10
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available