R18S (p.Arg18Ser) variant of FANCA (Fanconi anemia group A protein)
R18S (p.Arg18Ser) in FANCA (Fanconi anemia group A protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R18S (p.Arg18Ser) variant details
- p.Arg18Ser
- gnomAD rs1287222023
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.16
- CADD 8.94
- PolyPhen-2 0.07
- SIFT 0.44
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available