V49L (p.Val49Leu) variant of FANCD2 (Fanconi anemia group D2 protein)
V49L (p.Val49Leu) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
V49L (p.Val49Leu) variant details
- p.Val49Leu
- ExAC rs758492931
- gnomAD rs758492931
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- CADD 9.74
- PolyPhen-2 0.20
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available