L8Q (p.Leu8Gln) variant of RAD51D (O75771)
L8Q (p.Leu8Gln) in RAD51D (O75771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L8Q (p.Leu8Gln) variant details
- p.Leu8Gln
- Ensembl rs2142480837
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.28
- CADD 28.10
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available