P37L (p.Pro37Leu) variant of FANCA (Fanconi anemia group A protein)
P37L (p.Pro37Leu) in FANCA (Fanconi anemia group A protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P37L (p.Pro37Leu) variant details
- p.Pro37Leu
- cosmic curated COSV10532
- ExAC rs754642453
- gnomAD rs754642453
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.10
- CADD 17.20
- PolyPhen-2 0.25
- SIFT 0.29
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available