S14R (p.Ser14Arg) variant of MMAB (Q96EY8)
S14R (p.Ser14Arg) in MMAB (Q96EY8) 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 0.23 / 1. The record also includes population frequency data and structural context.
S14R (p.Ser14Arg) variant details
- p.Ser14Arg
- gnomAD rs1884743079
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 14.20
- PolyPhen-2 0.07
- SIFT 0.11
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available