P37R (p.Pro37Arg) variant of SPTBN4 (Q9H254)
P37R (p.Pro37Arg) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P37R (p.Pro37Arg) variant details
- p.Pro37Arg
- gnomAD 19-40472731-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- MetaLR 0.24
- MetaSVM -0.86
- CADD 8.16
- PolyPhen-2 0.44
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available