S6P (p.Ser6Pro) variant of HNRNPA1 (P09651)
S6P (p.Ser6Pro) in HNRNPA1 (P09651) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
S6P (p.Ser6Pro) variant details
- p.Ser6Pro
- gnomAD 12-54281386-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.46
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available