S31L (p.Ser31Leu) variant of RBM10 (RNA-binding protein 10)
S31L (p.Ser31Leu) in RBM10 (RNA-binding protein 10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
S31L (p.Ser31Leu) variant details
- p.Ser31Leu
- rs2147064417
- gnomAD X-47147375-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- CADD 25.20
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available