L81M (p.Leu81Met) variant of SPTBN2 (O15020)
L81M (p.Leu81Met) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
L81M (p.Leu81Met) variant details
- p.Leu81Met
- cosmic curated COSV10002
- Ensembl rs772427786
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.77
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available