V105L (p.Val105Leu) variant of MED13L (Q71F56)
V105L (p.Val105Leu) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
V105L (p.Val105Leu) variant details
- p.Val105Leu
- 1000Genomes rs548302905
- ExAC rs548302905
- TOPMed rs548302905
- gnomAD rs548302905
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 21.80
- PolyPhen-2 0.18
- SIFT 0.24
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00026)
- Structural context available