L21F (p.Leu21Phe) variant of MED13L (Q71F56)
L21F (p.Leu21Phe) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
L21F (p.Leu21Phe) variant details
- p.Leu21Phe
- Ensembl rs2138616852
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.49
- CADD 18.80
- PolyPhen-2 0.12
- SIFT 0.13
- Most common in the HGDP:HAZARA population (allele frequency 0.031)
- Structural context available