V49I (p.Val49Ile) variant of FANCD2 (Fanconi anemia group D2 protein)
V49I (p.Val49Ile) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
V49I (p.Val49Ile) variant details
- p.Val49Ile
- ExAC rs758492931
- gnomAD rs758492931
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- CADD 7.85
- PolyPhen-2 0.03
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available