P49S (p.Pro49Ser) variant of HNRNPA1 (P09651)
P49S (p.Pro49Ser) in HNRNPA1 (P09651) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
P49S (p.Pro49Ser) variant details
- p.Pro49Ser
- gnomAD 12-54281807-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.74
- CADD 27.40
- PolyPhen-2 0.89
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available