S11P (p.Ser11Pro) variant of FANCA (Fanconi anemia group A protein)
S11P (p.Ser11Pro) in FANCA (Fanconi anemia group A 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.
S11P (p.Ser11Pro) variant details
- p.Ser11Pro
- Ensembl rs2143731639
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.15
- CADD 7.31
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available