P21R (p.Pro21Arg) variant of SPTBN4 (Q9H254)
P21R (p.Pro21Arg) in SPTBN4 (Q9H254) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
P21R (p.Pro21Arg) variant details
- p.Pro21Arg
- ExAC rs765751602
- gnomAD rs765751602
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- CADD 3.42
- PolyPhen-2 0.23
- SIFT 0.29
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available