P5L (p.Pro5Leu) variant of SPTBN4 (Q9H254)
P5L (p.Pro5Leu) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
P5L (p.Pro5Leu) variant details
- p.Pro5Leu
- gnomAD 19-40472635-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- MetaLR 0.46
- MetaSVM -0.10
- CADD 22.70
- SIFT 0.01
- Most common in the HGDP:HAZARA population (allele frequency 0.031)
- Structural context available
- Literature evidence available