D30V (p.Asp30Val) variant of FGFR2 (P21802)
D30V (p.Asp30Val) in FGFR2 (P21802) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
D30V (p.Asp30Val) variant details
- p.Asp30Val
- Ensembl rs2135482795
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.45
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available